Incidental Mutation 'R5181:Kif9'
ID |
397555 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif9
|
Ensembl Gene |
ENSMUSG00000032489 |
Gene Name |
kinesin family member 9 |
Synonyms |
|
MMRRC Submission |
042761-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
R5181 (G1)
|
Quality Score |
193 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
110306062-110354242 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 110350336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 742
(D742E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142734
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061155]
[ENSMUST00000084952]
[ENSMUST00000197248]
[ENSMUST00000198043]
|
AlphaFold |
Q9WV04 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061155
AA Change: D742E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057896 Gene: ENSMUSG00000032489 AA Change: D742E
Domain | Start | End | E-Value | Type |
KISc
|
4 |
348 |
1.25e-120 |
SMART |
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
Blast:KISc
|
372 |
608 |
7e-19 |
BLAST |
low complexity region
|
651 |
668 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084952
AA Change: D742E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082016 Gene: ENSMUSG00000032489 AA Change: D742E
Domain | Start | End | E-Value | Type |
KISc
|
4 |
348 |
1.25e-120 |
SMART |
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
Blast:KISc
|
372 |
608 |
7e-19 |
BLAST |
low complexity region
|
651 |
668 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197248
AA Change: D742E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142734 Gene: ENSMUSG00000032489 AA Change: D742E
Domain | Start | End | E-Value | Type |
KISc
|
4 |
348 |
1.25e-120 |
SMART |
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
Blast:KISc
|
372 |
608 |
6e-19 |
BLAST |
low complexity region
|
651 |
668 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198043
|
SMART Domains |
Protein: ENSMUSP00000142689 Gene: ENSMUSG00000032489
Domain | Start | End | E-Value | Type |
KISc
|
4 |
348 |
1.25e-120 |
SMART |
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
Blast:KISc
|
372 |
476 |
5e-14 |
BLAST |
low complexity region
|
489 |
501 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0832 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
T |
A |
5: 8,764,937 (GRCm39) |
D642E |
probably benign |
Het |
Anxa2 |
T |
C |
9: 69,383,347 (GRCm39) |
V54A |
probably benign |
Het |
Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
Cdca2 |
A |
G |
14: 67,917,614 (GRCm39) |
S595P |
probably damaging |
Het |
Cenpe |
G |
A |
3: 134,948,064 (GRCm39) |
E1208K |
probably damaging |
Het |
Cfh |
T |
C |
1: 140,075,384 (GRCm39) |
|
probably benign |
Het |
Colq |
T |
A |
14: 31,279,799 (GRCm39) |
H9L |
probably benign |
Het |
Coq8b |
T |
C |
7: 26,951,747 (GRCm39) |
I403T |
possibly damaging |
Het |
Cyrib |
T |
A |
15: 63,810,526 (GRCm39) |
M234L |
probably damaging |
Het |
Dcdc2a |
C |
A |
13: 25,386,347 (GRCm39) |
T407K |
possibly damaging |
Het |
Dennd2b |
T |
C |
7: 109,155,997 (GRCm39) |
Y251C |
probably benign |
Het |
Gask1b |
A |
T |
3: 79,793,618 (GRCm39) |
S29C |
probably benign |
Het |
Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
Inpp5f |
A |
G |
7: 128,281,555 (GRCm39) |
T519A |
probably damaging |
Het |
Isl2 |
G |
T |
9: 55,449,561 (GRCm39) |
R79L |
probably benign |
Het |
Lgi2 |
T |
A |
5: 52,711,792 (GRCm39) |
K176M |
probably damaging |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Lrch4 |
A |
G |
5: 137,627,665 (GRCm39) |
D66G |
probably damaging |
Het |
Milr1 |
G |
A |
11: 106,645,806 (GRCm39) |
G116D |
probably damaging |
Het |
Myof |
T |
C |
19: 37,921,071 (GRCm39) |
D1397G |
possibly damaging |
Het |
Neurod2 |
T |
C |
11: 98,218,204 (GRCm39) |
H320R |
probably benign |
Het |
Nox3 |
A |
T |
17: 3,685,561 (GRCm39) |
Y562* |
probably null |
Het |
Nrap |
G |
A |
19: 56,333,960 (GRCm39) |
H884Y |
possibly damaging |
Het |
Odad4 |
G |
A |
11: 100,440,719 (GRCm39) |
D67N |
probably damaging |
Het |
Pde3a |
T |
C |
6: 141,426,981 (GRCm39) |
|
probably null |
Het |
Pgm2l1 |
G |
A |
7: 99,910,965 (GRCm39) |
C303Y |
probably benign |
Het |
Phip |
A |
G |
9: 82,753,243 (GRCm39) |
|
probably benign |
Het |
Plxna4 |
A |
G |
6: 32,493,932 (GRCm39) |
I228T |
probably damaging |
Het |
Prdm2 |
A |
G |
4: 142,861,536 (GRCm39) |
S585P |
probably benign |
Het |
Prpf6 |
T |
C |
2: 181,291,339 (GRCm39) |
I718T |
probably damaging |
Het |
Rpp40 |
T |
C |
13: 36,080,695 (GRCm39) |
|
probably null |
Het |
Skic2 |
T |
C |
17: 35,063,802 (GRCm39) |
D547G |
probably benign |
Het |
Slc22a22 |
T |
A |
15: 57,118,519 (GRCm39) |
Y264F |
probably benign |
Het |
Slc5a4b |
A |
T |
10: 75,896,221 (GRCm39) |
L578* |
probably null |
Het |
Sptan1 |
A |
T |
2: 29,883,736 (GRCm39) |
|
probably benign |
Het |
Sult2a4 |
T |
G |
7: 13,722,316 (GRCm39) |
I50L |
probably benign |
Het |
Taar6 |
T |
C |
10: 23,860,683 (GRCm39) |
T288A |
possibly damaging |
Het |
Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
Tmem98 |
T |
C |
11: 80,710,758 (GRCm39) |
V139A |
probably damaging |
Het |
Triobp |
T |
C |
15: 78,851,954 (GRCm39) |
Y703H |
probably benign |
Het |
Ttc34 |
A |
G |
4: 154,946,703 (GRCm39) |
T868A |
probably benign |
Het |
Ttn |
C |
T |
2: 76,665,225 (GRCm39) |
|
probably benign |
Het |
Vipas39 |
A |
T |
12: 87,286,601 (GRCm39) |
W470R |
probably damaging |
Het |
Vmn2r102 |
T |
C |
17: 19,897,003 (GRCm39) |
Y117H |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,790,001 (GRCm39) |
N335S |
possibly damaging |
Het |
Vmn2r70 |
A |
G |
7: 85,208,387 (GRCm39) |
Y697H |
probably damaging |
Het |
Wnk4 |
C |
A |
11: 101,156,203 (GRCm39) |
R461S |
probably damaging |
Het |
Xylb |
T |
A |
9: 119,193,567 (GRCm39) |
L87Q |
probably damaging |
Het |
Zcchc9 |
T |
A |
13: 91,945,281 (GRCm39) |
K101* |
probably null |
Het |
Zfp503 |
C |
A |
14: 22,035,705 (GRCm39) |
A404S |
probably benign |
Het |
Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably damaging |
Het |
|
Other mutations in Kif9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01630:Kif9
|
APN |
9 |
110,314,138 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02273:Kif9
|
APN |
9 |
110,339,538 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02818:Kif9
|
APN |
9 |
110,314,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R0034:Kif9
|
UTSW |
9 |
110,348,679 (GRCm39) |
missense |
probably benign |
0.23 |
R0034:Kif9
|
UTSW |
9 |
110,348,679 (GRCm39) |
missense |
probably benign |
0.23 |
R0047:Kif9
|
UTSW |
9 |
110,314,106 (GRCm39) |
missense |
probably benign |
0.05 |
R0047:Kif9
|
UTSW |
9 |
110,314,106 (GRCm39) |
missense |
probably benign |
0.05 |
R0137:Kif9
|
UTSW |
9 |
110,314,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R0594:Kif9
|
UTSW |
9 |
110,340,408 (GRCm39) |
missense |
probably benign |
0.22 |
R1503:Kif9
|
UTSW |
9 |
110,339,506 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1657:Kif9
|
UTSW |
9 |
110,319,034 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1826:Kif9
|
UTSW |
9 |
110,346,701 (GRCm39) |
missense |
probably benign |
0.34 |
R1856:Kif9
|
UTSW |
9 |
110,346,787 (GRCm39) |
missense |
probably null |
1.00 |
R2076:Kif9
|
UTSW |
9 |
110,314,100 (GRCm39) |
splice site |
probably null |
|
R3407:Kif9
|
UTSW |
9 |
110,348,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R4247:Kif9
|
UTSW |
9 |
110,325,027 (GRCm39) |
critical splice donor site |
probably null |
|
R4487:Kif9
|
UTSW |
9 |
110,323,552 (GRCm39) |
missense |
probably null |
1.00 |
R4515:Kif9
|
UTSW |
9 |
110,318,935 (GRCm39) |
missense |
probably benign |
0.38 |
R4880:Kif9
|
UTSW |
9 |
110,330,703 (GRCm39) |
missense |
probably damaging |
0.98 |
R5024:Kif9
|
UTSW |
9 |
110,312,161 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5093:Kif9
|
UTSW |
9 |
110,318,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R5362:Kif9
|
UTSW |
9 |
110,319,012 (GRCm39) |
missense |
probably damaging |
0.99 |
R5379:Kif9
|
UTSW |
9 |
110,350,371 (GRCm39) |
missense |
probably benign |
0.00 |
R5628:Kif9
|
UTSW |
9 |
110,343,621 (GRCm39) |
nonsense |
probably null |
|
R5653:Kif9
|
UTSW |
9 |
110,353,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R5698:Kif9
|
UTSW |
9 |
110,339,532 (GRCm39) |
missense |
probably benign |
|
R5758:Kif9
|
UTSW |
9 |
110,318,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R5986:Kif9
|
UTSW |
9 |
110,319,094 (GRCm39) |
missense |
probably benign |
0.05 |
R6103:Kif9
|
UTSW |
9 |
110,318,917 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6247:Kif9
|
UTSW |
9 |
110,317,612 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6255:Kif9
|
UTSW |
9 |
110,346,902 (GRCm39) |
splice site |
probably null |
|
R6991:Kif9
|
UTSW |
9 |
110,323,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R7113:Kif9
|
UTSW |
9 |
110,335,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R7459:Kif9
|
UTSW |
9 |
110,348,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R7593:Kif9
|
UTSW |
9 |
110,350,421 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7892:Kif9
|
UTSW |
9 |
110,343,682 (GRCm39) |
missense |
not run |
|
R8050:Kif9
|
UTSW |
9 |
110,348,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R8370:Kif9
|
UTSW |
9 |
110,317,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R8549:Kif9
|
UTSW |
9 |
110,343,487 (GRCm39) |
splice site |
probably null |
|
R8751:Kif9
|
UTSW |
9 |
110,330,724 (GRCm39) |
missense |
probably benign |
0.03 |
R8830:Kif9
|
UTSW |
9 |
110,353,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R9489:Kif9
|
UTSW |
9 |
110,346,710 (GRCm39) |
missense |
probably benign |
0.01 |
R9519:Kif9
|
UTSW |
9 |
110,350,344 (GRCm39) |
missense |
probably damaging |
0.98 |
R9605:Kif9
|
UTSW |
9 |
110,346,710 (GRCm39) |
missense |
probably benign |
0.01 |
R9776:Kif9
|
UTSW |
9 |
110,350,398 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTTTCTGCAGTGCCCAGG -3'
(R):5'- AATCTTCCTGGGCTGGTACC -3'
Sequencing Primer
(F):5'- AGGTGGCCCTTACAGAGG -3'
(R):5'- ACACCCTGTGCCTATCTAATGGAG -3'
|
Posted On |
2016-07-06 |